Consent for future genetic research: the NHANES experience in 2007-2008.
Biological specimens (Storage)
Genetic research (Evaluation)
McQuillan, Geraldine M.
Porter, Kathryn S.
|Publication:||Name: IRB: Ethics & Human Research Publisher: Hastings Center Audience: Academic Format: Magazine/Journal Subject: Health Copyright: COPYRIGHT 2011 Hastings Center ISSN: 0193-7758|
|Issue:||Date: Jan-Feb, 2011 Source Volume: 33 Source Issue: 1|
|Topic:||Event Code: 360 Services information; 310 Science & research|
|Organization:||Government Agency: United States. Centers for Disease Control and Prevention|
|Geographic:||Geographic Scope: United States Geographic Code: 1USA United States|
The National Health and Nutrition Examination Survey (NHANES) is a
program of studies conducted since the 1960s by the National Center for Health Statistics of the U.S. Centers for Disease Control and Prevention. Its purpose is to obtain information on the health and nutritional status of the U.S. population. The survey involves interviews and physical examinations of a nationally representative sample of civilian and noninstitutionalized adults and children. From 1999-2002, and again from 2007-2008, biospecimens (blood, urine, and DNA samples) were collected from NHANES participants. In 2006, we reported on the NHANES experience with obtaining consent for the storage and use of biospecimens for data years 1999-2002. (1) In this report, we provide an update on the NHANES experience regarding consent for collecting biospecimens for data years 2007-2008 (DNA samples were not collected from 2003-2006).
Survey Sampling and Consent Information
NHANES uses a complex, stratified, multistage probability sample design with unequal probabilities of selection to oversample certain subgroups of people such as African Americans, Mexican Americans, and seniors aged 60 years and over. (2) In 1999, NHANES became a continuous survey with two-year data release cycles. Individuals participating in each survey year are representative of the U.S. population. Similar procedures to select the sample and conduct the interviews and examinations were used from 1999 through 2008. (3) Data collection for NHANES occurs at three levels: a brief household screening interview, an in-depth household survey interview, and a medical examination in a special mobile examination center.
One of the goals of the 2007-2008 survey was to collect a national probability sample of biospecimens to store for future research, including genetic studies. Consent for the physical examination and consent for the collection and storage of biospecimens was obtained after the individual was selected to participate in the study and the household interview was completed. The NHANES survey and consent documents were approved by the National Center for Health Statistics Research Ethics Review Board.
Two consent forms were used for the collection of biospecimens: one for nongenetic research with participants' blood and urine samples, and the other for genetic research with their DNA sample. All NHANES participants were asked to sign a consent form to store their blood and urine samples so that researchers could use them to conduct studies to learn more about health and diseases. Parents of children under the age of 18 gave permission for the storage and use of the child's blood and urine, and children seven years or over gave their assent (Figure 1). Participants over the age of 20 were also asked to sign a consent form stating that DNA extracted from their blood sample would be stored for future genetic studies (Figure 2). As compared with previous NHANES consent forms to collect DNA samples, the consent form for genetic research in the 2007-2008 study discussed genetic testing in more detail.
NHANES did not collect DNA from 2003-2006, so the consent form for genetic research had not been used since 2002. Nonetheless, 37% of the interviewers for the 2007-2008 survey had been involved in the 2002 data collection, so they had previous experience with obtaining consent for storage of DNA samples. Survey interviewers were trained to explain the purpose of storing biospecimens and the difference between consent for storing blood and urine samples and consent for storing a DNA sample.
Participants were informed about confidentiality protections regarding their health and data. They were told that all health data collected would be kept strictly confidential and that the project staff were not allowed to discuss individuals' participation in the survey under penalty of federal law.4 An additional level of privacy protection is the Confidential Information Protection and Statistical Efficiency Act (CIPSEA), which protects the confidentiality of statistical information. All data and samples collected in NHANES from 2003 forward are bound by CIPSEA.5 Penalties for willful disclosure of confidential statistical information under CIPSEA is a class E felony subject to imprisonment for up to five years, a fine of $25,000, or both. When using the NHANES public-use microdata files, researchers are unable to identify the individuals from whom the data were obtained. Data are recategorized, top coded (i.e., coded so the highest figure is included), and/or suppressed prior to public release if there is a possibility that participants could be identified.
In addition to information about privacy and confidentiality protections, participants were told that the National Center for Health Statistics would not contact them to provide specific results from the studies, but that it would announce on its Web site the general results of studies. They were also told that an ethics review board would review study proposals, and that they can request that their biospecimens be removed from the specimen bank. The consent form for the main survey explained that participants can ask to have their data withdrawn from the dataset. If participants want their data removed, they are told about the studies (if any) in which their biospecimen was used up to that point. If feasible, NHANES purges their data from existing genetic datasets posted for public use.
For the 2007-2008 survey 5,935 adults 20 years of age or older were interviewed. Race/ethnicity based on self-report was categorized as non-Hispanic white, non-Hispanic black, and Mexican American. Individuals who did not self-select into these categories were classified as "other." Interviews were conducted in English and Spanish. If a participant did not speak English or Spanish, a family member or local interpreter translated the interview from English.
Consent for Nongenetic and Genetic Research
Table 1 presents the consent rates of individuals aged 20 and over for biospecimen storage for use in genetic and nongenetic research. The total consent rate for nongenetic research was uniformly high (99.3%). Moreover, regardless of demographic characteristics, the consent rate for nongenetic research never dropped below 98.2%, which was the rate for the "other" racial/ethnic group. The overall consent rate for genetic research was 86.0%. This rate was lower than the rate for genetic research in 2001-2002 (90%), but similar to the rate in 1999-2000 (84.6%).6 The lower overall consent rate for genetic research in the 1999-2000 and 2007-2008 studies may be a result of differences in the consent forms. Participants in 20012002 may not have realized that they had to check an opt-out box on the consent form to indicate they did not want their biospecimens used for future research.
Table 1 also shows that there were statistically significant differences (p < 0.05) in consent rates for genetic research for non-Hispanic black participants (82.6%) and those in the "other" race/ethnic category (83.%) compared with the rate for non-Hispanic whites (87.8%); for the youngest age group (20-39 years) compared with the oldest group; and for individuals who were interviewed in English compared with those interviewed in Spanish. No statistical significance emerged for consent rates by gender or educational level.
Previous NHANES reports have also revealed lower consent rates for genetic research for non-Hispanic black participants compared with non-Hispanic whites, (7) and other studies have demonstrated that individuals from nonwhite populations are less willing than whites to participate in genetic research. (8) To our knowledge, no other study has demonstrated that younger participants are less likely to consent to future genetic research when compared with older participants.
The debate on the appropriate consent approach for collecting and storing biospecimens is ongoing and not restricted to the NHANES project. (9) For example, David Wendler found that many people think researchers should have to obtain consent for each type of research in the future beyond the original consent for research when the biospecimens were obtained. (10) And a recent focus group study revealed that less that half (48%) of focus group participants indicated a preference for blanket consent at the beginning of a study, and 42% wanted researchers to ask for consent for each additional research study they wanted to conduct with stored biospecimens. The remaining 10% favored a menu-like consent form that gave them options indicating which type of studies their biospecimens could be used for. (11)
The overall consent rates for nongenetic and genetic research in our 2007-2008 study period reveal that a significant majority of individuals who are asked to provide biospecimens for future, unspecified research--including genetic studies--agreed to do so. Nonetheless, the consent rate for genetic research was lower by 13 percentage points, which suggests that some people still have concerns about genetic studies. It's also possible that the lower consent rates for genetic research dropped below the 90% rate obtained in 2002 as a result of changes in the consent document. Finally, in 2007-2008 non-Hispanic blacks and the "other" race/ ethnic group continued to be less likely to consent to genetic research when compared with non-Hispanic whites, and young adults were less likely than older adults to do so, though differences by gender seen in past surveys are no longer present.
* Geraldine M. McQuillan, PhD, is Senior Infectious Disease and Epidemiologist and Kathryn S. Porter, MD, MS, is Senior Medical Officer in the Division of Health and Nutrition Examination Surveys, National Center for Health Statistics, Centers for Disease Control and Prevention, Hyattsville, MD.
(1.) McQuillan GM, Porter KS, Agelli M, Kington RS. Consent for genetic research in a general population: The NHANES experience. Genetics in Medicine 2003;5(1):3 5-42; McQuillan GM, Pan Q, Porter KS. Consent for genetic research in a general population: An update on the National Health and Nutrition Examination Survey Experience. Genetics in Medicine 2006;8(6)354-360.
(2.) National Center for Health Statistics. NHANES 2007-2008, http://www.cdc.gov/nchs/nhanes/nhanes2007-2008/nhanes07_08. htm.
(3.) Wang SS, Fridinger F, Sheedy KM, and Khoury MJ. Public attitudes regarding the donation and storage of blood specimens for genetic research. Community Genetics 2001;4:18-26.
(4.) Sections 308 (d) of the Public Health Service Act (42 USC 242m) and the Privacy Act of 1974 (5 USC 552a).
(5.) Confidential Information Protection and Statistical Efficiency Act (PL 107-347).
(6.) See ref. 1, McQuillan et al. 2006.
(7.) See ref. 1.
(8.) See ref. 3, Wang et al. 2001; Chen DT, Rosenstein DL, Palaniappan M., et al. Research with stored biologic samples: What do research participants want? Archives of Internal Medicine 2005;165:652-655; Malone T, Catalano PJ, O'Dwyer PJ, Giantonio B. High rate of consent to bank biologic samples for future research: The Eastern Cooperative Oncology Group experience. Journal of the National Cancer Institute 2002;94:769-771.
(9.) See ref. 8, Malone et al. 2002; Wendler D, Emanuel E. The debate over research on stored biologic samples: What do sources think? Archives of Internal Medicine 2002;162:1457-1462; Murphy J, Scott J, Kaufman D, et al. Public perspectives on informed consent for biobanking. American Journal of Public Health 2009;99:2128-2134.
(10.) Wendler D. One-time general consent for research on biological samples. British Medical Journal 2006;332:544-547.
(11.) See ref. 9, Murphy et al. 2009.
Geraldine M. McQuillan and Kathryn S. Porter, "Consent for Future Genetic Research: The NHANES Experience in 2007-2008," IRB: Ethics & Human Research 33, no. 1 (2011): 9-14.
Figure 1. National Health and Nutrition Examination Survey (NHANES) Consent/Assent and Parental Permission for Specimen Storage and Continuing Studies Print name of participant ____________ ____________ ____________ First Middle Last Q Why will a sample of blood and urine be kept for future health studies? A We will store some of the blood and urine from persons who are examined in NHANES for future health studies. These samples will be frozen and kept in a specimen bank for as long as they last. Your participation is voluntary, and no loss of benefits will result if you refuse. Q What studies will be done with the samples? A At this time, no specific studies are planned besides the tests included in the NHANES exam. As scientists learn more about health and diseases, other studies will be conducted that may include stored samples. There can be many additional studies on these samples. People conducting these studies will not contact NHANES participants for any additional information. We will keep strictly confidential all health data and samples that we collect in NHANES as required by federal law. By confidential we mean that the information that we release to the public cannot be used to identify you. Our staff is not allowed to discuss that any person is part of this survey under penalty of federal laws: Section 308(d) of the Public Health Service Act (42 USC 242m) and the Privacy Act of 1974 (5 USC 552a). Q Who can use the stored samples for further study? A Researchers from federal agencies, universities, and other scientific centers can submit proposals to use the stored specimens. These proposals will be reviewed for scientific merit and then by a separate board that determines if the study proposed is ethical. The NHANES program will always know which samples belong to you or your child, but we will not give other researchers any information that could identify you or your child. Q Will I receive results from any future testing of my specimens? A Most studies will simply add to our knowledge of health and disease. Therefore, we do not plan to contact you or your family with individual results from these studies. Periodically we will announce on our Web site general results from the studies being conducted (http:// www.cdc.gov/nchs/nhanes.htm). To get more general information about a particular study, you can call our toll-free number, 1 -800-4526115. Q What are the benefits and risks for allowing my blood or urine sample to be used for future studies? A You will not directly benefit, but these studies may eventually help the health of people in the future. The risk of giving a sample includes the minor risk associated with taking the blood sample. There may also be a risk that some people may use the information from these studies to exaggerate or downplay differences among people. The ethics board that will review all studies using these samples will attempt to prevent any misuse of the information gained from the NHANES samples. Q How can I remove blood or urine samples from the specimen bank? A In the future, if you want samples removed from the specimen bank, call us toll-free at 1 -800-452-6115. The results of continuing studies of your stored specimens may help find new ways to prevent, treat, and cure many diseases. For persons ages seven and over, check a box  I agree that my blood and urine (if applicable) may be kept for future health studies  disagree For parent/guardian of a child under the age of 18, check a box  I agree that my child's blood and urine may be kept for future health studies  disagree ______________________________________ Signature of participant age 7 or over ____________ Date ______________________________________ Signature of parent/guardian of participant under 18 (Unless the participant is an emancipated minor ____________ Date I observed the interviewer read this form to the person named above and he/she agreed to participate by signing or marking this form. _____________________ Witness (if required) ____________ Date Name of staff member present when this form was signed:___________ Figure 2. National Health and Nutrition Examination Survey (NHANES) Consent for Specimen Storage and Continuing Studies Using DNA Print name of participant __________ ___________ ____________ First Middle Last Q Why will a sample of my DNA be kept for future health studies? A We will store part of the blood sample that we collect in the exam center for future genetic studies. These samples will be frozen and kept in a specimen bank for as long as they last. Your participation is voluntary, and no loss of benefits will result if you refuse. Q What genetic studies will be done with the samples? A Genes are the "instruction book" for people. Genes are made out of DNA. The DNA of a person is about 99.9% the same as the DNA of another person, but no two people have the same DNA except identical twins. Differences in DNA are called genetic variations and explain differences such as eye color and partly explain why some people get certain diseases. To look at these variations many genetic tests may be done on your blood sample. We will keep the DNA for an unlimited time. Studies of human genes are helping us learn about many diseases and health conditions. The information from people who are part of NHANES could help that effort. People conducting these studies will not contact NHANES participants for any additional information. We will keep strictly confidential all health data and samples that we collect in NHANES, as required by federal law. By confidential we mean that the information that we release to the public cannot be used to identify you. Our staff is not allowed to discuss that any person is part of this survey under penalty of federal laws: Section 308(d) of the Public Health Service Act (42 USC 242m) and the Privacy Act of 1974 (5 USC 552a). Q Who can use the stored DNA samples for further study? A Researchers from federal agencies, universities, and other scientific centers can submit proposals to use the stored specimens. These proposals will be reviewed for scientific merit and then by a separate board that determines if the study proposed is ethical. The NHANES program will always know which samples belong to you, but we will not give other researchers any information that could identify you. Q Will I receive results from any future testing of my specimens? A Most studies using DNA samples will simply add to our knowledge of health and disease. Therefore, we do not plan to contact you with individual results from these studies. Periodically we will announce on our Web site general results from the studies being conducted (http://www.cdc.gov/nchs/nhanes.htm). To get more general information about a particular study, you can call our toll-free number, 1 -800-452-6115. Q What are the benefits and risks for giving a blood sample for future genetic studies? A You will not directly benefit, but these studies may eventually help the health of people in the future. The risk of giving a sample includes the minor risk associated with taking the blood sample. There may also be a risk that some people may use the information from the genetic studies to exaggerate or downplay differences among people. The ethics board that will review all studies using these samples will attempt to prevent any misuse of the information gained from the NHANES DNA samples. Q How can I remove my DNA samples from the specimen bank? A In the future, if you want samples removed from the specimen bank, call us toll-free at 1-800-452-6115. Only for persons ages 20 and over, check a box  I agree that my blood may be kept for future studies using my genes to help understand genetic links to medical conditions  I disagree ________________________________________ Signature of participant age 20 or over ____________ Date I observed the interviewer read this form to the person named above and he/she agreed to participate by signing or marking this form _______________________________ Witness (if required) ____________ Date Name of staff member present when this form was signed:_______________
Table 1. Consent Rates for NHANES 2007-2008 for Nongenetic Future Research and Genetic Research for Participants < 20 years old Nongenetic future research Demographic Number Number characteristic interviewed consented Total 5,935 5,896 99.3 Race/ethnicity Non-Hispanic white (ref) 2,761 2,746 99.5 Non-Hispanic black 1,227 1,224 99.8 Mexican American 1,033 1,028 99.5 Other 914 898 98.2 (b) Gender Male 2,910 2,897 99.6 Female 3,025 2,999 99.1 Age 20-39 years 1,910 1,902 99.6 (b) 40-59 years 1,871 1,865 99.7 (b) 60+ (ref) 2,154 2,129 98.8 Education Less than HS 1,558 1,549 99.4 HS diploma 366 365 99.7 More than HS 4,011 3,982 99.3 Language of interview English 5,039 5,009 99.4 Spanish 879 870 99.0 Genetic research Demographic Percent Number Percent characteristic (95% CI) (a) consented (95% CI) (a) Total (99.1-99.5) 5,103 86.0 (85.1-86.9) Race/ethnicity Non-Hispanic white (ref) (99.2-99.7) 2,425 87.8 (86.6-89.0) Non-Hispanic black (99.5-100) 1,014 82.6b (80.5-84.8) Mexican American (99.1-99.9) 905 87.6 (85.6-89.6) Other (97.4-99.1) 759 83.0b (80.6-85.5) Gender Male (99.3-99.8) 2,505 86.1 (84.8-87.3) Female (98.8-99.6) 2,598 85.9 (84.6-87.1) Age 20-39 years (99.3-99.9) 1,576 82.5b (80.8-84.2) 40-59 years (99.4-99.9) 1,624 86.8 (85.3-88.3) 60+ (ref) (98.4-99.3) 1,903 88.3 (87.0-89.7) Education Less than HS (99.0-99.8) 1,344 86.3 (84.6-88.0) HS diploma (99.2-100) 325 88.8 (85.6-92.0) More than HS (99.0-99.5) 3,434 85.6 (84.5-86.7) Language of interview English (99.2-99.6) 4,314 85.6b (84.6-86.6) Spanish (98.3-99.6) 775 88.2 (86.0-90.3) (a) 95% confidence intervals (b) p < 0.05
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